Mutagenetix > Incidental Mutation

Incidental Mutation 'R1795:Spata31e2'

202092

Institutional Source

Beutler Lab

Gene Symbol

Spata31e2

Ensembl Gene

ENSMUSG00000073722

Gene Name

spermatogenesis associated 31 subfamily E member 2

Synonyms

4931408C20Rik

MMRRC Submission

039825-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1795 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

26720895-26726541 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 26722070 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Stop codon at position 1037 (G1037*)

Ref Sequence

ENSEMBL: ENSMUSP00000095410 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097801]

AlphaFold

E9PWP9

Predicted Effect

probably null
Transcript: ENSMUST00000097801
AA Change: G1037*

SMART Domains

Protein: ENSMUSP00000095410
Gene: ENSMUSG00000073722
AA Change: G1037*

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
Pfam:FAM75	128	474	4.6e-28	PFAM
internal_repeat_1	939	1112	4.27e-16	PROSPERO
internal_repeat_1	1204	1376	4.27e-16	PROSPERO

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	G	11: 109,941,792 (GRCm39)	I1159T	probably benign	Het
Abcc1	T	C	16: 14,283,001 (GRCm39)	V1159A	possibly damaging	Het
Abcg5	A	G	17: 84,981,007 (GRCm39)	I194T	probably damaging	Het
Abtb2	A	G	2: 103,397,369 (GRCm39)	T100A	probably benign	Het
Adam4	C	T	12: 81,468,068 (GRCm39)	M184I	probably benign	Het
Afap1l2	T	C	19: 56,916,841 (GRCm39)	D155G	probably damaging	Het
Ahnak	T	C	19: 8,979,802 (GRCm39)	V362A	possibly damaging	Het
Ak7	C	T	12: 105,692,482 (GRCm39)	R179*	probably null	Het
Akap8	C	A	17: 32,534,451 (GRCm39)	G332C	probably damaging	Het
Akr1e1	T	A	13: 4,645,071 (GRCm39)	Q204L	probably damaging	Het
Ankrd12	T	C	17: 66,293,222 (GRCm39)	E737G	possibly damaging	Het
Atrn	A	G	2: 130,814,208 (GRCm39)	D718G	probably benign	Het
Bco2	A	G	9: 50,452,469 (GRCm39)	S200P	possibly damaging	Het
C030005K15Rik	A	T	10: 97,561,648 (GRCm39)	S28T	unknown	Het
Cdc14a	T	A	3: 116,092,122 (GRCm39)	Q356L	possibly damaging	Het
Cdk5rap3	A	G	11: 96,799,654 (GRCm39)	L387P	probably damaging	Het
Celsr1	A	T	15: 85,914,524 (GRCm39)	S1150T	probably damaging	Het
Cntfr	A	G	4: 41,670,841 (GRCm39)		probably null	Het
Cramp1	T	C	17: 25,183,884 (GRCm39)	N1244D	probably damaging	Het
Csmd3	G	T	15: 47,721,316 (GRCm39)	D1542E	possibly damaging	Het
Cyp4f17	A	T	17: 32,736,943 (GRCm39)	I92F	probably benign	Het
Dhx30	A	T	9: 109,937,051 (GRCm39)		probably null	Het
Dlg1	T	A	16: 31,561,965 (GRCm39)	H120Q	probably benign	Het
Dmgdh	A	T	13: 93,843,207 (GRCm39)	M348L	probably benign	Het
Dnmt3b	G	A	2: 153,525,559 (GRCm39)	E741K	possibly damaging	Het
Dock3	T	G	9: 106,902,534 (GRCm39)	H292P	probably damaging	Het
Ercc6	T	A	14: 32,238,985 (GRCm39)	N24K	probably benign	Het
Esco2	T	C	14: 66,064,726 (GRCm39)	Q338R	probably benign	Het
Etl4	T	C	2: 20,812,837 (GRCm39)		probably null	Het
Exoc7	A	T	11: 116,183,347 (GRCm39)	I498N	probably damaging	Het
Fap	G	A	2: 62,378,933 (GRCm39)	S123L	probably damaging	Het
Foxn1	T	C	11: 78,262,051 (GRCm39)	E106G	probably benign	Het
Fscb	T	A	12: 64,521,175 (GRCm39)	D97V	probably damaging	Het
Gabrg1	T	C	5: 70,939,596 (GRCm39)	T174A	possibly damaging	Het
Gan	C	T	8: 117,923,199 (GRCm39)	A461V	possibly damaging	Het
Gbp2	T	A	3: 142,336,284 (GRCm39)	D211E	possibly damaging	Het
Gm10271	A	T	10: 116,792,746 (GRCm39)	Y47N	unknown	Het
Gm17333	G	T	16: 77,649,711 (GRCm39)		noncoding transcript	Het
Gm1758	T	A	16: 14,320,142 (GRCm39)		noncoding transcript	Het
Golga3	A	G	5: 110,355,493 (GRCm39)	K989R	possibly damaging	Het
Gucy2g	C	A	19: 55,187,973 (GRCm39)	V1041F	probably damaging	Het
Guk1	A	T	11: 59,077,639 (GRCm39)	F25I	probably benign	Het
H2al1o	C	T	X: 9,438,329 (GRCm39)	E87K	possibly damaging	Het
Hemgn	C	A	4: 46,395,958 (GRCm39)	C426F	probably damaging	Het
Hps3	A	G	3: 20,066,859 (GRCm39)		probably null	Het
Il2rb	A	T	15: 78,368,187 (GRCm39)	D287E	probably damaging	Het
Ino80	A	T	2: 119,237,340 (GRCm39)	V1123D	probably damaging	Het
Kdm2b	A	G	5: 123,122,523 (GRCm39)		probably null	Het
Kif21a	A	T	15: 90,856,930 (GRCm39)		probably null	Het
Klhl33	A	T	14: 51,129,583 (GRCm39)	N347K	probably damaging	Het
Krt1c	A	G	15: 101,724,861 (GRCm39)	F250L	possibly damaging	Het
Krt82	T	A	15: 101,451,819 (GRCm39)	N332I	possibly damaging	Het
Lgi1	A	G	19: 38,294,631 (GRCm39)	I444V	probably benign	Het
Lmod1	G	A	1: 135,252,862 (GRCm39)	V39M	probably damaging	Het
Lonrf2	G	A	1: 38,852,357 (GRCm39)	P165S	probably benign	Het
Mex3d	T	C	10: 80,217,376 (GRCm39)	T149A	probably benign	Het
Mideas	A	G	12: 84,205,748 (GRCm39)		probably null	Het
Mlxipl	A	C	5: 135,136,024 (GRCm39)	D83A	probably damaging	Het
Mroh8	T	A	2: 157,111,471 (GRCm39)	E161V	probably benign	Het
Mroh9	G	A	1: 162,884,347 (GRCm39)	T397I	probably damaging	Het
Mtss1	T	C	15: 58,930,249 (GRCm39)	D32G	possibly damaging	Het
Mus81	T	C	19: 5,533,504 (GRCm39)	D495G	probably benign	Het
Neurod1	A	C	2: 79,284,673 (GRCm39)	S237A	probably benign	Het
Npas1	G	A	7: 16,208,725 (GRCm39)	R51C	probably damaging	Het
Or11g27	T	C	14: 50,771,159 (GRCm39)	S97P	possibly damaging	Het
P2ry14	T	C	3: 59,023,274 (GRCm39)	N62S	probably damaging	Het
Pcdh15	A	G	10: 74,460,087 (GRCm39)	Y1308C	probably damaging	Het
Pcdhb14	A	T	18: 37,582,588 (GRCm39)	M565L	probably benign	Het
Pde6a	A	G	18: 61,390,283 (GRCm39)	E502G	probably damaging	Het
Pde8b	A	G	13: 95,178,527 (GRCm39)	V566A	probably benign	Het
Phf11b	G	T	14: 59,565,554 (GRCm39)	Q108K	probably benign	Het
Pikfyve	T	C	1: 65,291,716 (GRCm39)	Y1312H	probably damaging	Het
Plcb3	T	C	19: 6,933,381 (GRCm39)		probably benign	Het
Plxna2	G	A	1: 194,488,611 (GRCm39)	G1629D	probably damaging	Het
Plxnb1	T	C	9: 108,929,813 (GRCm39)	V223A	probably benign	Het
Prkca	A	T	11: 107,903,518 (GRCm39)	Y285N	possibly damaging	Het
Prl2a1	A	T	13: 27,992,554 (GRCm39)	N226I	probably damaging	Het
Pus7	A	C	5: 23,946,914 (GRCm39)	M636R	probably damaging	Het
Samd9l	G	A	6: 3,375,264 (GRCm39)	Q666*	probably null	Het
Sema3d	A	G	5: 12,634,854 (GRCm39)	D640G	probably benign	Het
Slc6a15	A	G	10: 103,236,121 (GRCm39)	I279V	probably benign	Het
Slk	T	C	19: 47,608,973 (GRCm39)	V642A	possibly damaging	Het
Spta1	T	A	1: 174,073,296 (GRCm39)	M2305K	probably damaging	Het
Srrt	T	C	5: 137,301,274 (GRCm39)		probably benign	Het
Stfa2l1	A	T	16: 35,977,228 (GRCm39)	I8L	probably benign	Het
Tap1	T	C	17: 34,413,899 (GRCm39)	L638P	probably benign	Het
Tbccd1	A	T	16: 22,640,995 (GRCm39)	L461M	probably benign	Het
Tecta	T	C	9: 42,289,345 (GRCm39)	T407A	probably benign	Het
Tmbim7	T	C	5: 3,707,493 (GRCm39)		probably null	Het
Tnrc18	C	A	5: 142,800,869 (GRCm39)	V30L	probably benign	Het
Tomm7	A	G	5: 24,049,025 (GRCm39)	F16S	probably damaging	Het
Ugt2a2	A	G	5: 87,622,315 (GRCm39)	S428P	probably benign	Het
Vmn1r189	T	C	13: 22,286,324 (GRCm39)	E171G	probably benign	Het
Vmn1r61	T	C	7: 5,614,324 (GRCm39)		probably benign	Het
Vmn2r120	A	T	17: 57,832,038 (GRCm39)	S250R	probably benign	Het
Vmn2r8	T	C	5: 108,950,972 (GRCm39)	R158G	probably benign	Het
Vmn2r98	A	T	17: 19,286,702 (GRCm39)	Y400F	probably damaging	Het
Vps13c	C	A	9: 67,801,267 (GRCm39)	Y582*	probably null	Het
Zfp518a	T	A	19: 40,904,000 (GRCm39)	F1310I	probably benign	Het
Zswim1	A	G	2: 164,667,320 (GRCm39)	I191V	probably benign	Het

Other mutations in Spata31e2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00540:Spata31e2	APN	1	26,724,058 (GRCm39)	missense	probably benign	0.00
IGL00575:Spata31e2	APN	1	26,722,013 (GRCm39)	missense	possibly damaging	0.51
IGL00656:Spata31e2	APN	1	26,721,982 (GRCm39)	missense	possibly damaging	0.71
IGL00671:Spata31e2	APN	1	26,723,940 (GRCm39)	missense	possibly damaging	0.50
IGL00777:Spata31e2	APN	1	26,721,173 (GRCm39)	missense	probably damaging	1.00
IGL00824:Spata31e2	APN	1	26,722,670 (GRCm39)	missense	possibly damaging	0.48
IGL01018:Spata31e2	APN	1	26,721,991 (GRCm39)	missense	probably damaging	0.99
IGL01148:Spata31e2	APN	1	26,724,253 (GRCm39)	missense	probably benign	0.22
IGL01631:Spata31e2	APN	1	26,724,495 (GRCm39)	missense	probably damaging	0.98
IGL01901:Spata31e2	APN	1	26,721,665 (GRCm39)	missense	probably benign	0.13
IGL01957:Spata31e2	APN	1	26,724,340 (GRCm39)	missense	probably damaging	0.98
IGL02031:Spata31e2	APN	1	26,724,104 (GRCm39)	missense	probably damaging	0.99
IGL02596:Spata31e2	APN	1	26,723,083 (GRCm39)	missense	probably benign	0.00
PIT4486001:Spata31e2	UTSW	1	26,724,410 (GRCm39)	missense	probably damaging	0.99
R0026:Spata31e2	UTSW	1	26,722,450 (GRCm39)	missense	probably benign	0.00
R0026:Spata31e2	UTSW	1	26,722,450 (GRCm39)	missense	probably benign	0.00
R0043:Spata31e2	UTSW	1	26,722,883 (GRCm39)	missense	possibly damaging	0.72
R0141:Spata31e2	UTSW	1	26,722,863 (GRCm39)	missense	probably benign	0.00
R0145:Spata31e2	UTSW	1	26,726,413 (GRCm39)	missense	probably benign	0.00
R0158:Spata31e2	UTSW	1	26,723,032 (GRCm39)	missense	probably damaging	0.98
R0325:Spata31e2	UTSW	1	26,724,347 (GRCm39)	missense	possibly damaging	0.91
R0627:Spata31e2	UTSW	1	26,724,970 (GRCm39)	missense	probably benign	0.00
R0733:Spata31e2	UTSW	1	26,722,013 (GRCm39)	missense	possibly damaging	0.51
R1033:Spata31e2	UTSW	1	26,721,466 (GRCm39)	missense	probably benign
R1074:Spata31e2	UTSW	1	26,722,307 (GRCm39)	missense	probably benign	0.00
R1108:Spata31e2	UTSW	1	26,721,547 (GRCm39)	missense	possibly damaging	0.85
R1139:Spata31e2	UTSW	1	26,721,746 (GRCm39)	missense	probably benign	0.04
R1326:Spata31e2	UTSW	1	26,723,011 (GRCm39)	missense	probably damaging	1.00
R1398:Spata31e2	UTSW	1	26,724,422 (GRCm39)	missense	possibly damaging	0.82
R1422:Spata31e2	UTSW	1	26,721,547 (GRCm39)	missense	possibly damaging	0.85
R1463:Spata31e2	UTSW	1	26,721,222 (GRCm39)	nonsense	probably null
R1485:Spata31e2	UTSW	1	26,724,961 (GRCm39)	missense	possibly damaging	0.92
R1568:Spata31e2	UTSW	1	26,724,950 (GRCm39)	missense	probably benign	0.01
R1603:Spata31e2	UTSW	1	26,724,650 (GRCm39)	missense	probably damaging	0.99
R1605:Spata31e2	UTSW	1	26,723,511 (GRCm39)	missense	possibly damaging	0.92
R1945:Spata31e2	UTSW	1	26,721,395 (GRCm39)	missense	probably benign	0.04
R1967:Spata31e2	UTSW	1	26,722,454 (GRCm39)	missense	probably benign	0.02
R2055:Spata31e2	UTSW	1	26,724,813 (GRCm39)	missense	possibly damaging	0.86
R2093:Spata31e2	UTSW	1	26,721,222 (GRCm39)	nonsense	probably null
R2131:Spata31e2	UTSW	1	26,724,935 (GRCm39)	missense	probably benign	0.11
R2237:Spata31e2	UTSW	1	26,724,241 (GRCm39)	missense	possibly damaging	0.82
R2314:Spata31e2	UTSW	1	26,723,783 (GRCm39)	missense	probably benign	0.00
R2407:Spata31e2	UTSW	1	26,721,919 (GRCm39)	missense	possibly damaging	0.86
R2993:Spata31e2	UTSW	1	26,724,909 (GRCm39)	missense	possibly damaging	0.83
R4245:Spata31e2	UTSW	1	26,721,161 (GRCm39)	missense	probably benign	0.00
R4567:Spata31e2	UTSW	1	26,722,198 (GRCm39)	missense	probably benign
R4605:Spata31e2	UTSW	1	26,722,267 (GRCm39)	missense	probably benign	0.45
R4708:Spata31e2	UTSW	1	26,723,521 (GRCm39)	missense	possibly damaging	0.92
R4827:Spata31e2	UTSW	1	26,724,923 (GRCm39)	missense	possibly damaging	0.91
R4839:Spata31e2	UTSW	1	26,724,440 (GRCm39)	missense	probably benign	0.11
R4888:Spata31e2	UTSW	1	26,722,628 (GRCm39)	missense	probably benign	0.00
R5075:Spata31e2	UTSW	1	26,722,133 (GRCm39)	missense	probably damaging	0.99
R5101:Spata31e2	UTSW	1	26,722,417 (GRCm39)	missense	possibly damaging	0.92
R5231:Spata31e2	UTSW	1	26,723,032 (GRCm39)	missense	possibly damaging	0.79
R5310:Spata31e2	UTSW	1	26,724,169 (GRCm39)	missense	probably benign	0.00
R5459:Spata31e2	UTSW	1	26,724,272 (GRCm39)	missense	probably damaging	0.96
R5520:Spata31e2	UTSW	1	26,724,900 (GRCm39)	missense	probably benign	0.00
R5608:Spata31e2	UTSW	1	26,722,129 (GRCm39)	missense	probably damaging	0.97
R5960:Spata31e2	UTSW	1	26,722,225 (GRCm39)	missense	probably benign	0.34
R6128:Spata31e2	UTSW	1	26,724,506 (GRCm39)	missense	probably benign	0.38
R6188:Spata31e2	UTSW	1	26,724,784 (GRCm39)	missense	probably damaging	0.99
R6319:Spata31e2	UTSW	1	26,724,482 (GRCm39)	missense	probably benign	0.38
R6339:Spata31e2	UTSW	1	26,721,586 (GRCm39)	missense	probably benign	0.01
R6431:Spata31e2	UTSW	1	26,723,111 (GRCm39)	missense	probably benign	0.11
R6456:Spata31e2	UTSW	1	26,724,250 (GRCm39)	missense	probably damaging	0.99
R6562:Spata31e2	UTSW	1	26,721,443 (GRCm39)	missense	possibly damaging	0.91
R6645:Spata31e2	UTSW	1	26,722,198 (GRCm39)	missense	probably benign	0.06
R6647:Spata31e2	UTSW	1	26,721,659 (GRCm39)	missense	probably damaging	0.99
R6919:Spata31e2	UTSW	1	26,722,015 (GRCm39)	missense	probably benign	0.15
R7085:Spata31e2	UTSW	1	26,722,546 (GRCm39)	missense	possibly damaging	0.95
R7183:Spata31e2	UTSW	1	26,721,914 (GRCm39)	missense	probably benign	0.27
R7347:Spata31e2	UTSW	1	26,723,548 (GRCm39)	missense	probably benign	0.02
R7488:Spata31e2	UTSW	1	26,723,039 (GRCm39)	missense	possibly damaging	0.77
R7565:Spata31e2	UTSW	1	26,724,351 (GRCm39)	missense	probably benign	0.00
R7726:Spata31e2	UTSW	1	26,723,579 (GRCm39)	missense	probably benign	0.08
R8258:Spata31e2	UTSW	1	26,721,562 (GRCm39)	missense	probably benign	0.28
R8259:Spata31e2	UTSW	1	26,721,562 (GRCm39)	missense	probably benign	0.28
R8701:Spata31e2	UTSW	1	26,724,526 (GRCm39)	missense	probably benign	0.21
R8905:Spata31e2	UTSW	1	26,721,895 (GRCm39)	missense	probably damaging	0.97
R9137:Spata31e2	UTSW	1	26,724,715 (GRCm39)	missense	probably benign	0.13
R9138:Spata31e2	UTSW	1	26,721,253 (GRCm39)	missense	possibly damaging	0.90
R9170:Spata31e2	UTSW	1	26,723,485 (GRCm39)	missense	possibly damaging	0.93
R9287:Spata31e2	UTSW	1	26,722,426 (GRCm39)	missense	possibly damaging	0.51
R9331:Spata31e2	UTSW	1	26,722,790 (GRCm39)	missense	probably benign	0.00
R9535:Spata31e2	UTSW	1	26,721,232 (GRCm39)	nonsense	probably null
R9719:Spata31e2	UTSW	1	26,722,820 (GRCm39)	missense	probably benign	0.02
X0025:Spata31e2	UTSW	1	26,721,586 (GRCm39)	missense	probably benign	0.00
X0061:Spata31e2	UTSW	1	26,721,650 (GRCm39)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- TCATCTGGGTTATAGGGTCCC -3'
(R):5'- AGACCCTGTGACAAACATCTG -3'

Sequencing Primer
(F):5'- TTATAGGGTCCCTGGGCAGC -3'
(R):5'- CATGTTGTTACAGGGGAG -3'

Posted On

2014-06-23